Incidental Mutation 'IGL02799:Rab11fip1'
ID 392276
Institutional Source Beutler Lab
Gene Symbol Rab11fip1
Ensembl Gene ENSMUSG00000031488
Gene Name RAB11 family interacting protein 1 (class I)
Synonyms 2010200K21Rik, 4833414G05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02799 (G1)
Quality Score 119
Status Validated
Chromosome 8
Chromosomal Location 27628801-27664674 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27642788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 670 (D670E)
Ref Sequence ENSEMBL: ENSMUSP00000058042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033878] [ENSMUST00000054212] [ENSMUST00000209377]
AlphaFold Q9D620
Predicted Effect probably benign
Transcript: ENSMUST00000033878
SMART Domains Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488

DomainStartEndE-ValueType
C2 19 125 1.57e-13 SMART
low complexity region 173 185 N/A INTRINSIC
low complexity region 201 227 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
low complexity region 373 396 N/A INTRINSIC
low complexity region 423 438 N/A INTRINSIC
Pfam:RBD-FIP 588 635 6.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000054212
AA Change: D670E

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: D670E

DomainStartEndE-ValueType
C2 19 125 1.57e-13 SMART
low complexity region 173 185 N/A INTRINSIC
low complexity region 201 227 N/A INTRINSIC
low complexity region 260 273 N/A INTRINSIC
low complexity region 373 396 N/A INTRINSIC
low complexity region 423 438 N/A INTRINSIC
low complexity region 582 600 N/A INTRINSIC
low complexity region 695 708 N/A INTRINSIC
low complexity region 745 757 N/A INTRINSIC
low complexity region 882 893 N/A INTRINSIC
low complexity region 976 983 N/A INTRINSIC
low complexity region 992 999 N/A INTRINSIC
Pfam:RBD-FIP 1109 1156 3.8e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209377
AA Change: D670E

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210187
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous knockout results in reduced metastatic potential of pancreatic adenocarcinoma (PDAC) tumor cells in KPC (PDAC model) mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Add2 A G 6: 86,083,234 (GRCm39) N444S possibly damaging Het
Atp2b2 A T 6: 113,739,813 (GRCm39) Y823* probably null Het
Atp2c1 A C 9: 105,290,242 (GRCm39) probably benign Het
Capns1 A T 7: 29,891,644 (GRCm39) D133E probably benign Het
Cast A G 13: 74,884,871 (GRCm39) V361A probably damaging Het
Cd69 G A 6: 129,245,223 (GRCm39) probably benign Het
Celsr2 T A 3: 108,321,378 (GRCm39) D478V probably damaging Het
Cenpf T C 1: 189,391,849 (GRCm39) E661G probably damaging Het
Chrna1 A G 2: 73,404,985 (GRCm39) probably benign Het
Clec5a C A 6: 40,554,983 (GRCm39) V138F probably damaging Het
Ctsj T A 13: 61,151,634 (GRCm39) I95F probably benign Het
Dcaf1 T A 9: 106,735,139 (GRCm39) S696T probably benign Het
Dcp1a T C 14: 30,241,636 (GRCm39) probably null Het
Dnajc14 C T 10: 128,642,725 (GRCm39) P216S possibly damaging Het
Dst T C 1: 34,218,930 (GRCm39) I1790T possibly damaging Het
Ehmt1 A T 2: 24,705,818 (GRCm39) H789Q probably damaging Het
Exoc7 A T 11: 116,192,007 (GRCm39) L188Q probably damaging Het
Faap100 A G 11: 120,261,561 (GRCm39) L823P probably damaging Het
Fdxacb1 T A 9: 50,683,896 (GRCm39) S620T probably benign Het
Fhl2 C T 1: 43,167,562 (GRCm39) R177Q probably benign Het
Gars1 C A 6: 55,040,084 (GRCm39) T337K probably damaging Het
Ggta1 A T 2: 35,312,211 (GRCm39) F56I probably damaging Het
Gm10715 A C 9: 3,038,062 (GRCm39) probably benign Het
Gpr108 T A 17: 57,544,482 (GRCm39) I343F probably damaging Het
Gpr12 T A 5: 146,520,629 (GRCm39) I98F possibly damaging Het
Hk2 A G 6: 82,737,219 (GRCm39) L3P probably damaging Het
Imp4 C A 1: 34,479,258 (GRCm39) probably benign Het
Insrr G A 3: 87,720,888 (GRCm39) V1049M probably damaging Het
Klhl24 T C 16: 19,933,331 (GRCm39) V314A probably damaging Het
Krt32 A T 11: 99,978,733 (GRCm39) V107D possibly damaging Het
Krtap5-1 G A 7: 141,850,242 (GRCm39) Q189* probably null Het
Lrrc9 A G 12: 72,553,178 (GRCm39) E1360G probably damaging Het
Mdc1 G T 17: 36,157,083 (GRCm39) L163F possibly damaging Het
Mroh1 T G 15: 76,276,661 (GRCm39) probably null Het
Myh8 A G 11: 67,192,418 (GRCm39) probably benign Het
Ndufab1 A T 7: 121,692,949 (GRCm39) probably benign Het
Nek3 A G 8: 22,648,735 (GRCm39) probably benign Het
Ngly1 A T 14: 16,260,636 (GRCm38) I107L probably benign Het
Nkain4 A T 2: 180,577,728 (GRCm39) probably null Het
Nsd2 T A 5: 34,022,132 (GRCm39) probably benign Het
Or4n4 A G 14: 50,518,801 (GRCm39) I303T probably benign Het
Or5e1 A T 7: 108,354,830 (GRCm39) M256L probably benign Het
Or5t9 A T 2: 86,659,300 (GRCm39) H68L probably damaging Het
Or7e166 T A 9: 19,624,314 (GRCm39) Y64N probably damaging Het
Or8b12 T A 9: 37,657,805 (GRCm39) I125N probably damaging Het
Pcnt G A 10: 76,248,417 (GRCm39) Q901* probably null Het
Pctp C A 11: 89,881,913 (GRCm39) W81C probably damaging Het
Pik3r5 A T 11: 68,386,773 (GRCm39) I801F probably damaging Het
Ptprj A T 2: 90,299,942 (GRCm39) N193K probably benign Het
Racgap1 T C 15: 99,530,628 (GRCm39) K201E probably benign Het
Ranbp2 T C 10: 58,316,086 (GRCm39) F2269L probably damaging Het
Rint1 C A 5: 24,024,478 (GRCm39) A760D possibly damaging Het
Ryr2 G A 13: 11,680,848 (GRCm39) P3166S probably damaging Het
Snap29 A G 16: 17,240,367 (GRCm39) N158D probably benign Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
St6galnac1 G T 11: 116,657,473 (GRCm39) probably benign Het
Strc G A 2: 121,209,717 (GRCm39) T202I probably damaging Het
Stxbp4 A G 11: 90,385,426 (GRCm39) probably null Het
Syne1 A T 10: 5,309,059 (GRCm39) M650K probably damaging Het
Tbc1d2b C T 9: 90,105,487 (GRCm39) probably benign Het
Tcfl5 A T 2: 180,280,419 (GRCm39) I328N possibly damaging Het
Tenm2 A G 11: 36,164,235 (GRCm39) Y337H probably damaging Het
Tgfbr2 T C 9: 115,939,204 (GRCm39) K233E possibly damaging Het
Tnk2 T C 16: 32,484,699 (GRCm39) probably benign Het
Trbv13-2 A G 6: 41,098,471 (GRCm39) probably benign Het
Tut4 T C 4: 108,370,725 (GRCm39) Y875H probably benign Het
Usp6nl T A 2: 6,432,360 (GRCm39) probably benign Het
Vmn2r62 A G 7: 42,437,396 (GRCm39) S363P possibly damaging Het
Vnn3 T C 10: 23,727,869 (GRCm39) I93T possibly damaging Het
Ylpm1 A G 12: 85,091,258 (GRCm39) D1108G probably damaging Het
Zbtb17 G A 4: 141,190,691 (GRCm39) G170S probably benign Het
Zfyve26 T C 12: 79,320,084 (GRCm39) E1087G probably benign Het
Other mutations in Rab11fip1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Rab11fip1 APN 8 27,644,804 (GRCm39) missense possibly damaging 0.71
IGL01976:Rab11fip1 APN 8 27,642,825 (GRCm39) missense possibly damaging 0.56
IGL02832:Rab11fip1 APN 8 27,642,840 (GRCm39) missense possibly damaging 0.79
R0046:Rab11fip1 UTSW 8 27,643,149 (GRCm39) missense probably damaging 0.99
R0046:Rab11fip1 UTSW 8 27,643,149 (GRCm39) missense probably damaging 0.99
R0145:Rab11fip1 UTSW 8 27,633,352 (GRCm39) missense probably damaging 1.00
R0243:Rab11fip1 UTSW 8 27,642,253 (GRCm39) missense probably damaging 1.00
R0427:Rab11fip1 UTSW 8 27,644,520 (GRCm39) missense probably damaging 0.99
R1341:Rab11fip1 UTSW 8 27,633,388 (GRCm39) missense probably damaging 0.99
R1487:Rab11fip1 UTSW 8 27,644,240 (GRCm39) missense probably damaging 0.99
R1509:Rab11fip1 UTSW 8 27,643,051 (GRCm39) missense probably damaging 1.00
R1731:Rab11fip1 UTSW 8 27,642,438 (GRCm39) missense probably damaging 0.98
R3832:Rab11fip1 UTSW 8 27,642,774 (GRCm39) missense probably benign
R4157:Rab11fip1 UTSW 8 27,642,175 (GRCm39) missense probably damaging 1.00
R4451:Rab11fip1 UTSW 8 27,644,505 (GRCm39) missense probably damaging 1.00
R4595:Rab11fip1 UTSW 8 27,644,603 (GRCm39) missense probably damaging 0.98
R4620:Rab11fip1 UTSW 8 27,644,243 (GRCm39) missense probably damaging 1.00
R4753:Rab11fip1 UTSW 8 27,642,769 (GRCm39) missense probably benign
R4834:Rab11fip1 UTSW 8 27,643,111 (GRCm39) missense probably damaging 1.00
R4958:Rab11fip1 UTSW 8 27,644,841 (GRCm39) missense probably damaging 0.99
R5102:Rab11fip1 UTSW 8 27,646,402 (GRCm39) missense probably damaging 0.99
R5558:Rab11fip1 UTSW 8 27,642,003 (GRCm39) missense probably damaging 1.00
R5752:Rab11fip1 UTSW 8 27,646,614 (GRCm39) missense probably damaging 0.99
R5859:Rab11fip1 UTSW 8 27,644,748 (GRCm39) missense probably damaging 1.00
R6525:Rab11fip1 UTSW 8 27,646,527 (GRCm39) missense probably benign 0.45
R6527:Rab11fip1 UTSW 8 27,664,420 (GRCm39) missense probably damaging 0.99
R6551:Rab11fip1 UTSW 8 27,646,512 (GRCm39) missense probably damaging 0.96
R6695:Rab11fip1 UTSW 8 27,633,262 (GRCm39) missense probably damaging 1.00
R6730:Rab11fip1 UTSW 8 27,633,257 (GRCm39) missense probably damaging 1.00
R6810:Rab11fip1 UTSW 8 27,642,760 (GRCm39) frame shift probably null
R6925:Rab11fip1 UTSW 8 27,643,000 (GRCm39) missense probably damaging 1.00
R6941:Rab11fip1 UTSW 8 27,646,303 (GRCm39) nonsense probably null
R7481:Rab11fip1 UTSW 8 27,646,609 (GRCm39) missense probably damaging 1.00
R7504:Rab11fip1 UTSW 8 27,642,981 (GRCm39) missense possibly damaging 0.78
R7610:Rab11fip1 UTSW 8 27,642,064 (GRCm39) missense probably benign 0.19
R8264:Rab11fip1 UTSW 8 27,642,508 (GRCm39) nonsense probably null
R8360:Rab11fip1 UTSW 8 27,642,374 (GRCm39) nonsense probably null
R8958:Rab11fip1 UTSW 8 27,644,940 (GRCm39) missense possibly damaging 0.91
R9025:Rab11fip1 UTSW 8 27,644,736 (GRCm39) missense probably benign 0.00
R9093:Rab11fip1 UTSW 8 27,633,355 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAAAGACACGCGCTTCTTGC -3'
(R):5'- CCGACTTGAGATGTGACTCAG -3'

Sequencing Primer
(F):5'- ACGCGCTTCTTGCCCTTC -3'
(R):5'- GTGACTCAGAGACACAGTTCTCTG -3'
Posted On 2016-06-09